A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974343



Internal ID18262868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60208870..60212833hg38UCSC Ensembl
Innerchr14:60675588..60679551hg19UCSC Ensembl
Innerchr14:59745341..59749304hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383964
hg193964
hg183964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988656, nssv1988653, nssv1988652, nssv1988655, nssv1988659, nssv1988651, nssv1988660, nssv1988654, nssv1988657, nssv1988658
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974343
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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